AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation ScienceNamed GroupsHealth CareGeographicals
Werner SyndromeRecQ HelicasesExodeoxyribonucleasesGenes, RecessiveSyndromeDNA HelicasesConsanguinityPedigreeMutationBloom SyndromeHomozygoteAbnormalities, MultipleExonucleasesDNA Mutational AnalysisRothmund-Thomson SyndromeAging, PrematurePhenotype4-Nitroquinoline-1-oxideAlbinism, OculocutaneousMutation, MissenseMolecular Sequence DataProgeriaDNAHeterozygoteBase SequenceCystinosisHermanski-Pudlak SyndromeChromosome MappingGenetic LinkageLipoid Proteinosis of Urbach and WietheMicrocephalyAdenosine TriphosphatasesDNA DamageLod ScoreBardet-Biedl SyndromeExonsIntellectual DisabilityDwarfismFibroblastsTelomereHeterozygote DetectionOsteochondrodysplasiasMetabolism, Inborn ErrorsCodon, NonsenseFrameshift MutationDNA ReplicationDNA RepairPolycystic Kidney, Autosomal RecessiveAmino Acid SequencePapillon-Lefevre DiseaseHaplotypesAmino Acid Metabolism, Inborn ErrorsFounder EffectSurvival of Motor Neuron 1 ProteinChromosomes, Human, Pair 8Retinitis PigmentosaHearing Loss, SensorineuralGenetic HeterogeneityAllelesHypotrichosisUsher SyndromesDNA-Binding ProteinsGenotypeFanconi AnemiaAtaxia TelangiectasiaChediak-Higashi SyndromeGenetic TestingReplication Protein ATelomeric Repeat Binding Protein 2HeLa CellsMuscular Atrophy, SpinalAfibrinogenemiaHepatolenticular DegenerationUrea Cycle Disorders, InbornNails, MalformedPolymorphism, Single-Stranded ConformationalGenetic MarkersIchthyosis, LamellarFamily HealthCell LineFaciesEllis-Van Creveld SyndromeInfant, NewbornSpinal Muscular Atrophies of ChildhoodPorphyria, ErythropoieticProtein Structure, TertiaryLipid Metabolism, Inborn ErrorsPoint MutationProtein BindingAnemia, MegaloblasticHypopigmentationBipolar DisorderSMN Complex ProteinsCraniofacial AbnormalitiesProton-Coupled Folate TransporterChromosomes, Human, Pair 1Genetic Diseases, InbornHair DiseasesMicrosatellite RepeatsLipodystrophy, Congenital Generalized
Ataxia-telangiectasiaCongenitalFamilialGeneSpinal musculaHomozygousDominantDystrophyHereditaryAtrophyAttenuationProgeroidRetinaGenesComplicationsDysplasiaRareDiseasesPeripheralParkinsonismAssessmentGenetic disorderDiseaseJuvenileCataractUsherPreventionDefectsVariantsDetectionGeneralPeeling skinIndividualsFound
Ataxia-telangiectasia1
Congenital2
  • This article focuses on generalized lipoatrophy, a rare group of syndromes, either acquired (Lawrence-Seip syndrome) or congenital (Berardinelli-Seip syndrome), characterized by a near-complete absence of fat. (medscape.com)
  • Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes. (oru.se)
Familial1
  • A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers. (wikipedia.org)
Gene4
  • Both alleles of a gene must be mutated in autosomal recessive disorders for an individual to have a predisposition to cancer. (wikipedia.org)
  • If both parents have one mutant allele and one normal allele (heterozygous) then they have a 25% chance of producing a homozygous recessive child (has predisposition), 50% chance of producing a heterozygous child (carrier of the faulty gene) and 25% chance of produced a child with two normal alleles. (wikipedia.org)
  • An important gene associated with Peeling Skin Syndrome 1 is CDSN (Corneodesmosin), and among its related pathways/superpathways is Keratinization. (silexon.tech)
  • ABCC6 and ENPP1 GENE ANALYSIS IN PSEUDOXANTHOMA ELASTICUM Pseudoxanthoma Elasticum (PXE) is an autosomal recessive multisystem disorder characterised histologically by ectopic mineralisation and fragmentation of elastic fibres of soft connective tissues such as skin, retina and cardiovascular system. (exeterlaboratory.com)
Spinal muscula1
  • When your patients are looking to understand if they are a carrier for specific genetic conditions like cystic fibrosis, spinal muscular atrophy, fragile X syndrome, or Tay-Sachs disease, appropriate genetic screening and actionable results are essential . (questwomenshealth.com)
Homozygous3
  • A person with two recessive alleles is known as homozygous recessive. (wikipedia.org)
  • Both parents must have at least one faulty allele in order for a child to be homozygous recessive. (wikipedia.org)
  • A boy with this disorder is described who has a homozygous R527H substitution in LMNA . (bmj.com)
Dominant2
  • Most cancer syndromes are transmitted in a mendelian autosomal dominant manner. (wikipedia.org)
  • These include Charcot-Marie-Tooth disease type 2B, 7 forms of dilated cardiomyopathy, 8 both autosomal dominant and autosomal recessive forms of Emery-Dreifuss muscular dystrophy, 9, 10 limb girdle muscular dystrophy type 1B, 11 Dunnigan-type familial partial lipodystrophy, 12- 14 and Hutchinson-Gilford progeria. (bmj.com)
Dystrophy1
  • Achromatopsia is a predominantly stable/slowly progressive retinal dystrophy characterised by the lack of function in all three classes of cone photoreceptors (S-cones, M-cones and L-cones) from birth or early infancy. (gene.vision)
Hereditary8
  • It is a typical hereditary progeroid syndrome that can be difficult to diagnose owing to its rarity and the similarity of some of its symptoms, such as juvenile cataracts, to other common ophthalmologic conditions. (bvsalud.org)
  • Hereditary cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors. (wikipedia.org)
  • Common examples of inherited cancer syndromes are hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colon cancer (Lynch syndrome). (wikipedia.org)
  • Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. (wikipedia.org)
  • Given the prevalence of breast and colon cancer, the most widely recognized syndromes include hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colon cancer (Lynch syndrome). (wikipedia.org)
  • Some rare cancers are strongly associated with hereditary cancer predisposition syndromes. (wikipedia.org)
  • Primary care physicians can identify people who are at risk of a hereditary cancer syndrome. (wikipedia.org)
  • Traditionally, clinical signs of a hereditary disorder may not be recognized until after weaning since musculoskeletal, ocular, digestive, and other anomalies may not be as readily identified during the neonatal phase of development. (vin.com)
Atrophy1
  • One example is prcd-PRA where affected animals suffer from retinal atrophy that leads to eventual blindness with clinical signs rarely seen before 3-5 years of age. (vin.com)
Attenuation1
  • Retinitis pigmentosa-39 (RP39) is characterized by the typical features of RP, including constriction of visual fields and reduced vision, with the fundus showing bone-spicule pigment deposition and attenuation of retinal vessels (Kaiserman et al. (nih.gov)
Progeroid1
  • Additional genetic subtypes include progeroid syndromes, autoinflammatory disorders, and SHORT syndrome. (medscape.com)
Retina1
  • Our lab develops and uses adaptive optics, eye movement correction and optical microscopy technologies to improve the non-invasive visualization of the retina to the point that individual retinal structure and function and can be visualized at the cellular and even sub-cellular scale. (stanford.edu)
Genes1
  • Many of these syndromes are caused by mutations in tumor suppressor genes, genes that are involved in protecting the cell from turning cancerous. (wikipedia.org)
Complications1
  • However, increasing evidence points to inflammation as a key figure in diabetes-associated retinal complications. (bvsalud.org)
Dysplasia1
  • Mandibuloacral dysplasia (MAD) is a rare disorder combining a characteristic facial appearance with acro-osteolysis and lipodystrophy. (bmj.com)
Rare3
  • BACKGROUND: Werner syndrome is a rare, autosomal recessive disorder characterised by premature aging. (bvsalud.org)
  • Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. (amrita.edu)
  • MIM 248370) is a rare autosomal recessive disorder. (bmj.com)
Diseases1
  • In general, autosomal recessive diseases are more likely to be expressed when there is a higher degree of inbreeding. (vin.com)
Peripheral1
  • conditions with Lifetime Employment nervosa also be their disposal age by affected BalusC, leading, leading, peripheral disease and autosomal help SocialAuth bladders, diseased as finding gastrointestinal files and necrosis groups. (reconcile-int.org)
Parkinsonism2
  • Parkinsonism and Related Disorders. (lu.se)
  • Parkinsonism & Related Disorders, 61, 245-247. (oru.se)
Assessment1
  • Invited Session V: The eye as a window to systemic and neurodegenerative health: Seeking Answers through a keyhole: Harnessing the Synergy of Dynamic OCT/OCT Angiography and Adaptive Optics SLO for Retinal Assessment of Systemic Disease. (stanford.edu)
Genetic disorder2
  • 6 As such, it is important for a practicing veterinarian to consult reference sources to obtain knowledge about a known genetic disorder, breed distributions, and the distinguishing characteristics regarding diagnosis, treatment, and control (Table 1). (vin.com)
  • Diagnostic tests generally are required to further support a genetic disorder in a diseased animal. (vin.com)
Disease3
  • Note: If you'd like to get a target analysis report for Peeling Skin Syndrome Type B , or if you are interested to learn how our AI-powered BDE-Chem can design therapeutic molecules to interact with the target(s) above against the disease of Peeling Skin Syndrome Type B at a cost 90% lower than traditional approaches, please feel free to contact us at [email protected] . (silexon.tech)
  • An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. (nih.gov)
  • The premise that motivates all the work in my lab, is that after the first few days of life most retinal cells are post-mitotic, and thus early detection and treatment of disease are paramount for preventing vision loss. (stanford.edu)
Juvenile1
  • If a unique ocular finding was observed on ocular examinations in cases of juvenile bilateral cataracts, we could consider Werner syndrome as a differential diagnosis. (bvsalud.org)
Cataract1
  • Full-field Electroretinography in Age-related Macular Degeneration: can retinal electrophysiology predict the subjective visual outcome of cataract surgery? (lu.se)
Usher4
  • Similarities and Differences in Health, Social Trust, and Financial Situation in People With Usher Syndrome, a Bio-Psychosocial Perspective. (oru.se)
  • The lived experiences of work and health of people living with deaf-blindness due to Usher syndrome type 2. (oru.se)
  • Life strategies of people with deafblindness due to Usher syndrome type 2a-a qualitative study. (oru.se)
  • Health, work, social trust, and financial situation in persons with Usher syndrome type 1. (oru.se)
Prevention1
  • Scientific understanding of cancer susceptibility syndromes is actively expanding: additional syndromes are being found, the underlying biology is becoming clearer, and genetic testing is improving detection, treatment, and prevention of cancer syndromes. (wikipedia.org)
Defects1
  • Disorders caused by defects in the nuclear lamina associated proteins are referred to as the laminopathies. (bmj.com)
Variants2
  • Do variants in IRF2BPL cause both neurological disorders and keratoconus 8? (lu.se)
  • But genetic variants for a number of the most severe yet prevalent disorders can be challenging to detect by NGS assays. (thermofisher.com)
Detection1
  • CNV detection is an essential part of genetic analysis for inherited disorders. (thermofisher.com)
General1
  • Does the disorder occur in a greater frequency within a line or breed than in the general population? (vin.com)
Peeling skin1
Individuals1
  • An estimated 1-5 million individuals in the United States have a lipodystrophy syndrome, but accurate data are difficult to obtain owing to the rarity of these conditions. (medscape.com)
Found1
  • In today's multiethnic society, some genetic disorders previously thought to be confined to specific ethnic groups are increasingly being found in broader populations. (thermofisher.com)